Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?, Mutation Research/Reviews in Mutation Research, vol.681, issue.2-3, pp.189-196, 2009. ,
DOI : 10.1016/j.mrrev.2008.08.002
Newborn Hearing Screening ??? A Silent Revolution, New England Journal of Medicine, vol.354, issue.20, pp.2151-2164, 2006. ,
DOI : 10.1056/NEJMra050700
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families, BMC Medical Genetics, vol.119, issue.4, p.23865914, 2013. ,
DOI : 10.1002/lary.20116
Deafness and Hereditary Hearing Loss Overview, editors. GeneReviews, 1993. ,
Usher syndrome (sensorineural deafness and retinitis pigmentosa), Current Opinion in Neurology, vol.25, issue.1, pp.42-49, 2012. ,
DOI : 10.1097/WCO.0b013e32834ef8b2
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children, Genetics in Medicine, vol.22, issue.8, pp.512-516, 2010. ,
DOI : 10.1097/GIM.0b013e3181e5afb8
Update on Usher syndrome, Current Opinion in Neurology, vol.22, issue.1, pp.19-27, 2009. ,
DOI : 10.1097/WCO.0b013e3283218807
An Update on the Genetics of Usher Syndrome, Journal of Ophthalmology, vol.2, issue.34, pp.417217-417227, 2011. ,
DOI : 10.1136/jmg.2006.044784
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48, Nature Genetics, vol.128, issue.11, pp.1265-1271, 2012. ,
DOI : 10.1186/1749-8104-6-20
Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness, PLoS ONE, vol.7, issue.6, p.24926664 ,
DOI : 10.1371/journal.pone.0099797.s002
URL : https://hal.archives-ouvertes.fr/pasteur-01060192
Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment, Gene, vol.527, issue.2, p.23850727, 2013. ,
DOI : 10.1016/j.gene.2013.06.044
A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Research, vol.16, issue.3, pp.1215-3344216, 1988. ,
DOI : 10.1093/nar/16.3.1215
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss, Gene, vol.525, issue.1, p.23680645, 2013. ,
DOI : 10.1016/j.gene.2013.04.078
URL : https://hal.archives-ouvertes.fr/pasteur-00861409
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness, Human Molecular Genetics, vol.21, issue.17, pp.3835-3844, 2012. ,
DOI : 10.1093/hmg/dds212
URL : https://hal.archives-ouvertes.fr/pasteur-01472843
Four-Year Follow-up of Diagnostic Service in USH1 Patients, Investigative Opthalmology & Visual Science, vol.52, issue.7, pp.4063-4071, 2011. ,
DOI : 10.1167/iovs.10-6869
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis, Orphanet Journal of Rare Diseases, vol.6, issue.1, p.21569298, 2011. ,
DOI : 10.1006/geno.1996.0489
URL : https://hal.archives-ouvertes.fr/pasteur-00663885